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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-33293462-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33293462&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RGL2",
"hgnc_id": 9769,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004761.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PFDN6",
"hgnc_id": 4926,
"hgvs_c": "c.260+3012C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000463584.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.072,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05849701166152954,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 777,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004761.5",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000497454.6",
"protein_coding": true,
"protein_id": "NP_004752.1",
"strand": false,
"transcript": "NM_004761.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 777,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000497454.6",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004761.5",
"protein_coding": true,
"protein_id": "ENSP00000420211.1",
"strand": false,
"transcript": "ENST00000497454.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000437840.6",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "n.1572G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000437840.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 797,
"aa_ref": "G",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1727,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968840.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Gly576Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638899.1",
"strand": false,
"transcript": "ENST00000968840.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 792,
"aa_ref": "G",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968838.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Gly571Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638897.1",
"strand": false,
"transcript": "ENST00000968838.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000908150.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Gly563Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578209.1",
"strand": false,
"transcript": "ENST00000908150.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 777,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000968835.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638894.1",
"strand": false,
"transcript": "ENST00000968835.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 776,
"aa_ref": "G",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1664,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000908151.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Gly555Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578210.1",
"strand": false,
"transcript": "ENST00000908151.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1661,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968834.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Gly554Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638893.1",
"strand": false,
"transcript": "ENST00000968834.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 774,
"aa_ref": "G",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000908156.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Gly553Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578215.1",
"strand": false,
"transcript": "ENST00000908156.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 774,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968841.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638900.1",
"strand": false,
"transcript": "ENST00000968841.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 765,
"aa_ref": "G",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968837.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Gly544Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638896.1",
"strand": false,
"transcript": "ENST00000968837.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 759,
"aa_ref": "G",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000908153.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Gly538Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578212.1",
"strand": false,
"transcript": "ENST00000908153.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 752,
"aa_ref": "G",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2259,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000908154.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Gly531Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578213.1",
"strand": false,
"transcript": "ENST00000908154.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 752,
"aa_ref": "G",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 2259,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968836.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Gly531Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638895.1",
"strand": false,
"transcript": "ENST00000968836.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 750,
"aa_ref": "G",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000908152.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Gly529Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578211.1",
"strand": false,
"transcript": "ENST00000908152.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 749,
"aa_ref": "G",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968842.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638901.1",
"strand": false,
"transcript": "ENST00000968842.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000908155.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Gly524Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578214.1",
"strand": false,
"transcript": "ENST00000908155.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 695,
"aa_ref": "G",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001243738.2",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230667.1",
"strand": false,
"transcript": "NM_001243738.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 680,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968839.1",
"gene_hgnc_id": 9769,
"gene_symbol": "RGL2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638898.1",
"strand": false,
"transcript": "ENST00000968839.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1221,
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